Persones / Equip Humà

Rafael Artuch Iriberri

Buscador de publicacions

Publicacions

  • Sariego-Jamardo A, Garcia-Cazorla A, Artuch-Iriberri R, Castejón E, García-Arenas D, Molero M, Ormazabal-Herrero A and Sanmarti FX.

    Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels

    PEDIATRIC NEUROLOGY . 53(5): 422-426. Nº de cites: 15

    [doi:10.1016/j.pediatrneurol.2015.07.013]

  • Ormazabal-Herrero A, Casado-Rio M, Molero M, Montoya J, Rahman S, Aylett SB, Hargreaves I, Heales S and Artuch-Iriberri R.

    Can folic acid have a role in mitochondrial disorders?

    DRUG DISCOVERY TODAY . 20(11): 1349-1354. Nº de cites: 32

    [doi:10.1016/j.drudis.2015.07.002]

  • Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Nº de cites: 47

    [doi:10.1186/s13023-015-0358-y]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de cites: 15

    [doi:10.1586/14737159.2015.1062727]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de cites: 20

    [doi:10.1586/14737175.2015.1055322]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de cites: 14

    [doi:10.1016/j.mito.2015.03.001]

  • Brito S, Thompson K, Campistol-Plana J, Colomer J, Hardy S, Langping H, Fernández-Marmiesse A, Palacios L, Jou-Munoz C, Jimenez-Mallebrera C, Armstrong-Moron J, Montero-Sanchez R, Artuch-Iriberri R, Tischner C, Wenz T, McFarland R and Taylor R.

    Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations

    Frontiers in Genetics . 6: 102-102. Nº de cites: 18

    [doi:10.3389/fgene.2015.00102]

  • Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders

    Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de cites: 3

    [doi:10.1055/s-0035-1554782]

  • Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

    MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Nº de cites: 13

    [doi:10.1016/j.ymgme.2014.10.014]

  • Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Nº de cites: 32

    [doi:10.1186/s13023-014-0217-2]